Canonical Allele Identifier: CA2123831990
Gene: TGM1 HGNC NCBI

Linked Data

dbSNP Id: rs1673008007
gnomAD v4: 14-24255853-CCT-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24255854_24255855del , CM000676.2:g.24255854_24255855del GRCh38
NC_000014.8:g.24725060_24725061del , CM000676.1:g.24725060_24725061del GRCh37
NC_000014.7:g.23794900_23794901del NCBI36
NG_007150.1:g.12312_12313del
NG_007150.2:g.12312_12313del

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1491+134_1491+135del MANE Select ENSP00000206765.6:n.1491+134_1491+135del
ENST00000206765.10:c.1491+134_1491+135del ENSP00000206765.6:n.1491+134_1491+135del
ENST00000544573.5:c.165+134_165+135del ENSP00000439446.1:n.165+134_165+135del
ENST00000559136.1:c.564+134_564+135del ENSP00000453337.1:n.564+134_564+135del
NM_000359.2:c.1491+134_1491+135del NP_000350.1:n.1491+134_1491+135del
NM_000359.3:c.1491+134_1491+135del MANE Select NP_000350.1:n.1491+134_1491+135del
Search 100 bp 5'
Search 100 bp 3'